Cargando…

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation

Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association. To improve variant prioritisation, we leverage population e...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ge, Xiaoyan, Gong, Henry, Dumas, Kevin, Litwin, Jessica, Phillips, Joanna J, Waisfisz, Quinten, Weiss, Marjan M, Hendriks, Yvonne, Stuurman, Kyra E, Nelson, Stanley F, Grody, Wayne W, Lee, Hane, Kwok, Pui-Yan, Shieh, Joseph T C
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5576364/ https://www.ncbi.nlm.nih.gov/pubmed/28868155 http://dx.doi.org/10.1038/npjgenmed.2016.36

Ejemplares similares

Emerging RAS superfamily conditions involving GTPase function
por: Shieh, Joseph T. C.
Publicado: (2019)

WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data
por: Straver, Roy, et al.
Publicado: (2017)

Assessing the necessity of confirmatory testing for exome sequencing results in a clinical molecular diagnostic laboratory
por: Strom, Samuel P., et al.
Publicado: (2014)

Evolution and Diversity of the Ras Superfamily of Small GTPases in Prokaryotes
por: Wuichet, Kristin, et al.
Publicado: (2014)

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes
por: Provenzano, Aldesia, et al.
Publicado: (2020)

The Ras Superfamily of Small GTPases in Non-neoplastic Cerebral Diseases
por: Qu, Liang, et al.
Publicado: (2019)

The Ras protein superfamily: Evolutionary tree and role of conserved amino acids
por: Rojas, Ana Maria, et al.
Publicado: (2012)

The Ras protein superfamily: Evolutionary tree and role of conserved amino acids
por: Rojas, Ana Maria, et al.
Publicado: (2012)

ERAS, a Member of the Ras Superfamily, Acts as an Oncoprotein in the Mammary Gland
por: Suarez-Cabrera, Cristian, et al.
Publicado: (2021)

Exome Sequencing in Fetuses with Structural Malformations
por: Mackie, Fiona L., et al.
Publicado: (2014)

Regulation of p53 oligomerization by Ras superfamily protein RBEL1A
por: Lui, Ki, et al.
Publicado: (2015)

Wavelet coherence phase analysis decodes the universal switching mechanism of Ras GTPase superfamily
por: Motiwala, Zenia, et al.
Publicado: (2023)

Lysine-acetylation as a fundamental regulator of Ran function: Implications for signaling of proteins of the Ras-superfamily
por: Knyphausen, Philipp, et al.
Publicado: (2015)

MutaFrame—an interpretative visualization framework for deleteriousness prediction of missense variants in the human exome
por: Ancien, François, et al.
Publicado: (2021)

RASOnD - A comprehensive resource and search tool for RAS superfamily oncogenes from various species
por: Kulsum, Umay, et al.
Publicado: (2011)

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
por: Strom, Samuel P, et al.
Publicado: (2014)

Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients
por: Rigter, T, et al.
Publicado: (2014)

Small GTPases of the Ras superfamily regulate intestinal epithelial homeostasis and barrier function via common and unique mechanisms
por: Citalán-Madrid, Alí Francisco, et al.
Publicado: (2013)

Optogenetic modulation of guanine nucleotide exchange factors of Ras superfamily proteins directly controls cell shape and movement
por: Pal, Dhiman Sankar, et al.
Publicado: (2023)

Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report
por: Eleftheriadou, Maria, et al.
Publicado: (2021)

A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation
por: Geng, Hao, et al.
Publicado: (2020)

Is the model of signal amplification by GPCRs/GEFs activating multiple GTPases relevant to a broad spectrum of heterotrimeric and RAS superfamily GTPases?
por: Kahn, Richard A
Publicado: (2014)

Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing
por: Jeon, Ga Won, et al.
Publicado: (2014)

Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis
por: Zhang, Xin, et al.
Publicado: (2012)

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)
por: Swaika, Abhisek, et al.
Publicado: (2016)

Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing
por: Yu, Shanshan, et al.
Publicado: (2014)

Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis
por: Catania, Alessia, et al.
Publicado: (2018)

The expansin superfamily
por: Sampedro, Javier, et al.
Publicado: (2005)

Analysis of baseline and cisplatin-inducible gene expression in Fanconi anemia cells using oligonucleotide-based microarrays
por: Waisfisz, Quinten, et al.
Publicado: (2002)

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
por: Ivanova, Ekaterina L., et al.
Publicado: (2019)

A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family
por: Han, Guoqing, et al.
Publicado: (2021)

Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations
por: Bilgüvar, Kaya, et al.
Publicado: (2010)

Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development
por: Perenthaler, Elena, et al.
Publicado: (2019)

Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice
por: Hilton, Jennifer M, et al.
Publicado: (2011)

Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders
por: Lu, Ting, et al.
Publicado: (2018)

Identification of a low frequency missense mutation in MUC6 contributing to pulmonary artery hypertension by whole-exome sequencing
por: Zou, Lihui, et al.
Publicado: (2018)

Exome-wide analysis identifies three low-frequency missense variants associated with pancreatic cancer risk in Chinese populations
por: Chang, Jiang, et al.
Publicado: (2018)

Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report
por: Bryant, Laura, et al.
Publicado: (2019)

Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia
por: Ibrahim, Ali Zaki, et al.
Publicado: (2020)

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia
por: Rees, Elliott, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_psfn9bp271dn35dl05va80bnhc